A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638349



Internal ID6678447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28860611..28907894hg38UCSC Ensembl
chr16:28871932..28919215hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3847284
hg1947284
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441241
SamplesHG00178
Known GenesATP2A1, LOC100289092, RABEP2, SH2B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638349
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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